ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.365G>A (p.Arg122His)

dbSNP: rs201306582
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001181506 SCV001346660 uncertain significance Cardiomyopathy 2023-07-20 criteria provided, single submitter clinical testing This missense variant replaces arginine with histidine at codon 122 of the PKP2 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 3/279496 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Institute of Human Genetics, University of Leipzig Medical Center RCV001262672 SCV001440621 uncertain significance Arrhythmogenic right ventricular dysplasia 9 2019-01-01 criteria provided, single submitter clinical testing

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